{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:07:32Z","timestamp":1790737652300,"version":"4.1.0"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003093","name":"Ministry of Higher Education Malaysia","doi-asserted-by":"crossref","award":["UM.C\/625\/1\/HIR\/MOHE\/MED\/45"],"award-info":[{"award-number":["UM.C\/625\/1\/HIR\/MOHE\/MED\/45"]}],"id":[{"id":"10.13039\/501100003093","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2020,3]]},"DOI":"10.1007\/s10072-019-04122-9","type":"journal-article","created":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T10:02:57Z","timestamp":1573639377000},"page":"591-598","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes"],"prefix":"10.1007","volume":"41","author":[{"given":"Chung-Kin","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce Siew-Yong","family":"Low","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kheng-Seang","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siew-Kee","family":"Low","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong-Tin","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5156-6077","authenticated-orcid":false,"given":"Ching-Ching","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,13]]},"reference":[{"issue":"3","key":"4122_CR1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.pediatrneurol.2007.06.001","volume":"37","author":"N Lucarini","year":"2007","unstructured":"Lucarini N, Verrotti A, Napolioni V, Bosco G, Curatolo P (2007) Genetic polymorphisms and idiopathic generalized epilepsies. Pediatr Neurol 37(3):157\u2013164. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2007.06.001","journal-title":"Pediatr Neurol"},{"issue":"11","key":"4122_CR2","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1016\/j.ejmg.2015.10.005","volume":"58","author":"R Fjaer","year":"2015","unstructured":"Fjaer R, Brodtkorb E, Oye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK (2015) Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2. Eur J Med Genet 58(11):624\u2013628. https:\/\/doi.org\/10.1016\/j.ejmg.2015.10.005","journal-title":"Eur J Med Genet"},{"key":"4122_CR3","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.clineuro.2017.10.020","volume":"169","author":"XW Liu","year":"2018","unstructured":"Liu XW, Li W, Han T, Wei K, Qiao S, Su L, Chi Z (2018) The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. Clin Neurol Neurosurg 169:86\u201391. https:\/\/doi.org\/10.1016\/j.clineuro.2017.10.020","journal-title":"Clin Neurol Neurosurg"},{"issue":"9","key":"4122_CR4","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1038\/jhg.2013.77","volume":"58","author":"R Parihar","year":"2013","unstructured":"Parihar R, Ganesh S (2013) The SCN1A gene variants and epileptic encephalopathies. J Hum Genet 58(9):573\u2013580. https:\/\/doi.org\/10.1038\/jhg.2013.77","journal-title":"J Hum Genet"},{"key":"4122_CR5","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.brainres.2017.09.023","volume":"1677","author":"N Binini","year":"2017","unstructured":"Binini N, Sancini G, Villa C, Dal Magro R, Sansoni V, Rusconi R, Mantegazza M, Grioni D, Talpo F, Toselli M, Combi R (2017) Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE). Brain Res 1677:26\u201332. https:\/\/doi.org\/10.1016\/j.brainres.2017.09.023","journal-title":"Brain Res"},{"issue":"1","key":"4122_CR6","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1002\/epi4.12037","volume":"2","author":"R Thounaojam","year":"2017","unstructured":"Thounaojam R, Langbang L, Itisham K, Sobhani R, Srivastava S, Ramanujam B, Verma R, Tripathi M, Aguan K (2017) EFHC1 mutation in Indian juvenile myoclonic epilepsy patient. Epilepsia Open 2(1):84\u201389. https:\/\/doi.org\/10.1002\/epi4.12037","journal-title":"Epilepsia Open"},{"issue":"2","key":"4122_CR7","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.gene.2013.12.026","volume":"536","author":"NM Phani","year":"2014","unstructured":"Phani NM, Acharya S, Xavy S, Bhaskaranand N, Bhat MK, Jain A, Rai PS, Satyamoorthy K (2014) Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene. Gene 536(2):247\u2013253. https:\/\/doi.org\/10.1016\/j.gene.2013.12.026","journal-title":"Gene"},{"issue":"7","key":"4122_CR8","doi-asserted-by":"publisher","first-page":"766","DOI":"10.15252\/embr.201438840","volume":"15","author":"KT Kahle","year":"2014","unstructured":"Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA (2014) Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO Rep 15(7):766\u2013774. https:\/\/doi.org\/10.15252\/embr.201438840","journal-title":"EMBO Rep"},{"issue":"8","key":"4122_CR9","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1212\/WNL.0b013e318247ff54","volume":"78","author":"P Striano","year":"2012","unstructured":"Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nurnberg P, Sander T, Zara F, Lerche H, Marini C, Consortium E (2012) GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 78(8):557\u2013562. https:\/\/doi.org\/10.1212\/WNL.0b013e318247ff54","journal-title":"Neurology"},{"issue":"7","key":"4122_CR10","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1007\/s00439-012-1149-3","volume":"131","author":"Y Jiang","year":"2012","unstructured":"Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X (2012) NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Hum Genet 131(7):1217\u20131224. https:\/\/doi.org\/10.1007\/s00439-012-1149-3","journal-title":"Hum Genet"},{"issue":"3","key":"4122_CR11","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1212\/01.wnl.0000317090.92185.ec","volume":"71","author":"BA Neubauer","year":"2008","unstructured":"Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Muller U, Sander T (2008) KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 71(3):177\u2013183. https:\/\/doi.org\/10.1212\/01.wnl.0000317090.92185.ec","journal-title":"Neurology"},{"issue":"9","key":"4122_CR12","doi-asserted-by":"publisher","first-page":"1894","DOI":"10.1111\/j.1528-1167.2010.02642.x","volume":"51","author":"P Lachance-Touchette","year":"2010","unstructured":"Lachance-Touchette P, Martin C, Poulin C, Gravel M, Carmant L, Cossette P (2010) Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy. Epilepsia 51(9):1894\u20131897. https:\/\/doi.org\/10.1111\/j.1528-1167.2010.02642.x","journal-title":"Epilepsia"},{"issue":"3","key":"4122_CR13","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1002\/humu.20876","volume":"30","author":"C Saint-Martin","year":"2009","unstructured":"Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C (2009) Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat 30(3):397\u2013405. https:\/\/doi.org\/10.1002\/humu.20876","journal-title":"Hum Mutat"},{"issue":"5","key":"4122_CR14","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1002\/humu.9491","volume":"28","author":"B Singh","year":"2007","unstructured":"Singh B, Monteil A, Bidaud I, Sugimoto Y, Suzuki T, Hamano S, Oguni H, Osawa M, Alonso ME, Delgado-Escueta AV, Inoue Y, Yasui-Furukori N, Kaneko S, Lory P, Yamakawa K (2007) Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Hum Mutat 28(5):524\u2013525. https:\/\/doi.org\/10.1002\/humu.9491","journal-title":"Hum Mutat"},{"issue":"11","key":"4122_CR15","doi-asserted-by":"publisher","first-page":"3160","DOI":"10.1093\/brain\/awy263","volume":"141","author":"C Marini","year":"2018","unstructured":"Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerova J, Lassuthova P, Sterbova K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C (2018) HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain 141(11):3160\u20133178. https:\/\/doi.org\/10.1093\/brain\/awy263","journal-title":"Brain"},{"issue":"2","key":"4122_CR16","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajhg.2019.05.020","volume":"105","author":"Epi25 Collaborative. Electronic address sbuea, Epi C","year":"2019","unstructured":"Epi25 Collaborative. Electronic address sbuea, Epi C (2019) Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. Am J Hum Genet 105(2):267\u2013282. https:\/\/doi.org\/10.1016\/j.ajhg.2019.05.020","journal-title":"Am J Hum Genet"},{"issue":"6","key":"4122_CR17","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1007\/s10072-018-3300-y","volume":"39","author":"C Yang","year":"2018","unstructured":"Yang C, Hua Y, Zhang W, Xu J, Xu L, Gao F, Jiang P (2018) Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases. Neurol Sci 39(6):1113\u20131115. https:\/\/doi.org\/10.1007\/s10072-018-3300-y","journal-title":"Neurol Sci"},{"issue":"2","key":"4122_CR18","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/j.ajhg.2012.06.016","volume":"91","author":"EL Heinzen","year":"2012","unstructured":"Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O\u2019Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB (2012) Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 91(2):293\u2013302. https:\/\/doi.org\/10.1016\/j.ajhg.2012.06.016","journal-title":"Am J Hum Genet"},{"issue":"45","key":"4122_CR19","doi-asserted-by":"publisher","first-page":"78940","DOI":"10.18632\/oncotarget.20694","volume":"8","author":"ZH Chen","year":"2017","unstructured":"Chen ZH, Wang C, Zhuo MQ, Zhai QX, Chen Q, Guo YX, Zhang YX, Gui J, Tang ZH, Zeng XL (2017) Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca(2+)-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. Oncotarget 8(45):78940\u201378947. https:\/\/doi.org\/10.18632\/oncotarget.20694","journal-title":"Oncotarget"},{"issue":"14","key":"4122_CR20","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1212\/WNL.0000000000000291","volume":"82","author":"GL Carvill","year":"2014","unstructured":"Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC (2014) GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology 82(14):1245\u20131253. https:\/\/doi.org\/10.1212\/WNL.0000000000000291","journal-title":"Neurology"},{"issue":"1","key":"4122_CR21","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/s10038-017-0359-x","volume":"63","author":"Q Zeng","year":"2018","unstructured":"Zeng Q, Yang X, Zhang J, Liu A, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y (2018) Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. J Hum Genet 63(1):9\u201318. https:\/\/doi.org\/10.1038\/s10038-017-0359-x","journal-title":"J Hum Genet"},{"issue":"14","key":"4122_CR22","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754\u20131760. https:\/\/doi.org\/10.1093\/bioinformatics\/btp324","journal-title":"Bioinformatics"},{"issue":"16","key":"4122_CR23","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, Genome Project Data Processing S (2009) The Sequence Alignment\/Map format and SAMtools. Bioinformatics 25(16):2078\u20132079. https:\/\/doi.org\/10.1093\/bioinformatics\/btp352","journal-title":"Bioinformatics"},{"issue":"5","key":"4122_CR24","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43(5):491\u2013498. https:\/\/doi.org\/10.1038\/ng.806","journal-title":"Nat Genet"},{"issue":"D1","key":"4122_CR25","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","volume":"47","author":"P Rentzsch","year":"2019","unstructured":"Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M (2019) CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 47(D1):D886\u2013D894. https:\/\/doi.org\/10.1093\/nar\/gky1016","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"4122_CR26","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1093\/bioinformatics\/btu703","volume":"31","author":"D Quang","year":"2015","unstructured":"Quang D, Chen Y, Xie X (2015) DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics 31(5):761\u2013763. https:\/\/doi.org\/10.1093\/bioinformatics\/btu703","journal-title":"Bioinformatics"},{"issue":"7","key":"4122_CR27","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4(7):1073\u20131081. https:\/\/doi.org\/10.1038\/nprot.2009.86","journal-title":"Nat Protoc"},{"issue":"4","key":"4122_CR28","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248\u2013249. https:\/\/doi.org\/10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"issue":"10","key":"4122_CR29","doi-asserted-by":"publisher","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","volume":"7","author":"Y Choi","year":"2012","unstructured":"Choi Y, Sims GE, Murphy S, Miller JR, Chan AP (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS One 7(10):e46688. https:\/\/doi.org\/10.1371\/journal.pone.0046688","journal-title":"PLoS One"},{"issue":"5","key":"4122_CR30","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee ALQA (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"issue":"Web Server issu","key":"4122_CR31","doi-asserted-by":"publisher","first-page":"W306","DOI":"10.1093\/nar\/gki375","volume":"33","author":"E Capriotti","year":"2005","unstructured":"Capriotti E, Fariselli P, Casadio R (2005) I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 33(Web Server issue):W306\u2013W310. https:\/\/doi.org\/10.1093\/nar\/gki375","journal-title":"Nucleic Acids Res"},{"issue":"3","key":"4122_CR32","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1016\/j.jmb.2007.05.022","volume":"372","author":"E Krissinel","year":"2007","unstructured":"Krissinel E, Henrick K (2007) Inference of macromolecular assemblies from crystalline state. J Mol Biol 372(3):774\u2013797. https:\/\/doi.org\/10.1016\/j.jmb.2007.05.022","journal-title":"J Mol Biol"},{"key":"4122_CR33","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alf\u00f6ldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Vallabh Minikel E, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, , Neale BM, Daly MJ, MacArthur DG (2019) Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. bioRxiv"},{"issue":"7571","key":"4122_CR34","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"A Auton","year":"2015","unstructured":"Genomes Project C, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (2015) A global reference for human genetic variation. Nature 526(7571):68\u201374. https:\/\/doi.org\/10.1038\/nature15393","journal-title":"Nature"},{"issue":"1","key":"4122_CR35","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S0014-5793(01)03239-2","volume":"513","author":"M Bahler","year":"2002","unstructured":"Bahler M, Rhoads A (2002) Calmodulin signaling via the IQ motif. FEBS Lett 513(1):107\u2013113","journal-title":"FEBS Lett"},{"issue":"4","key":"4122_CR36","doi-asserted-by":"publisher","first-page":"259","DOI":"10.5152\/TurkPediatriArs.2018.4197","volume":"53","author":"GO Tuncer","year":"2018","unstructured":"Tuncer GO, Teber S, Albayrak P, Kutluk MG, Deda G (2018) A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene. Turk Pediatri Ars 53(4):259\u2013262. https:\/\/doi.org\/10.5152\/TurkPediatriArs.2018.4197","journal-title":"Turk Pediatri Ars"},{"issue":"7","key":"4122_CR37","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1016\/j.seizure.2009.04.009","volume":"18","author":"K Mahoney","year":"2009","unstructured":"Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young TL (2009) Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure 18(7):492\u2013497. https:\/\/doi.org\/10.1016\/j.seizure.2009.04.009","journal-title":"Seizure"},{"issue":"4","key":"4122_CR38","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.pjnns.2015.06.006","volume":"49","author":"D Hoffman-Zacharska","year":"2015","unstructured":"Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J (2015) From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit. Neurol Neurochir Pol 49(4):258\u2013266. https:\/\/doi.org\/10.1016\/j.pjnns.2015.06.006","journal-title":"Neurol Neurochir Pol"},{"key":"4122_CR39","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.nbd.2019.01.006","volume":"125","author":"AR Salgueiro-Pereira","year":"2019","unstructured":"Salgueiro-Pereira AR, Duprat F, Pousinha PA, Loucif A, Douchamps V, Regondi C, Ayrault M, Eugie M, Stunault MI, Escayg A, Goutagny R, Gnatkovsky V, Frassoni C, Marie H, Bethus I, Mantegazza M (2019) A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. Neurobiol Dis 125:31\u201344. https:\/\/doi.org\/10.1016\/j.nbd.2019.01.006","journal-title":"Neurobiol Dis"},{"issue":"2","key":"4122_CR40","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1684\/epd.2014.0657","volume":"16","author":"N Jingami","year":"2014","unstructured":"Jingami N, Matsumoto R, Ito H, Ishii A, Ihara Y, Hirose S, Ikeda A, Takahashi R (2014) A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures. Epileptic Disord 16(2):227\u2013231. https:\/\/doi.org\/10.1684\/epd.2014.0657","journal-title":"Epileptic Disord"},{"issue":"9","key":"4122_CR41","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1111\/j.1528-1167.2010.02640.x","volume":"51","author":"A Escayg","year":"2010","unstructured":"Escayg A, Goldin AL (2010) Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia 51(9):1650\u20131658. https:\/\/doi.org\/10.1111\/j.1528-1167.2010.02640.x","journal-title":"Epilepsia"},{"issue":"1","key":"4122_CR42","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0896-6273(00)81133-2","volume":"26","author":"WA Catterall","year":"2000","unstructured":"Catterall WA (2000) From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 26(1):13\u201325","journal-title":"Neuron"},{"issue":"44","key":"4122_CR43","doi-asserted-by":"publisher","first-page":"10022","DOI":"10.1523\/JNEUROSCI.2034-04.2004","volume":"24","author":"J Spampanato","year":"2004","unstructured":"Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH (2004) A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci 24(44):10022\u201310034. https:\/\/doi.org\/10.1523\/JNEUROSCI.2034-04.2004","journal-title":"J Neurosci"},{"issue":"7","key":"4122_CR44","doi-asserted-by":"publisher","first-page":"E747","DOI":"10.1002\/humu.21041","volume":"30","author":"R Rusconi","year":"2009","unstructured":"Rusconi R, Combi R, Cestele S, Grioni D, Franceschetti S, Dalpra L, Mantegazza M (2009) A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies? Hum Mutat 30(7):E747\u2013E760. https:\/\/doi.org\/10.1002\/humu.21041","journal-title":"Hum Mutat"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-019-04122-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10072-019-04122-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-019-04122-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T00:25:15Z","timestamp":1605140715000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10072-019-04122-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,13]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["4122"],"URL":"https:\/\/doi.org\/10.1007\/s10072-019-04122-9","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,13]]},"assertion":[{"value":"20 June 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 October 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 November 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This study was approved by the Medical Ethics Committee of University Malaya Medical Centre (MEC reference number: 944.3). Written consent was obtained from all subjects.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}